Canonical Allele Identifier: CA232348591
Gene: TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs992991372
gnomAD v2: 12-6580244-C-T
gnomAD v3: 12-6471078-C-T
gnomAD v4: 12-6471078-C-T
MyVariant Identifiers: chr12:g.6580244C>T (hg19) chr12:g.6471078C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471078C>T , CM000674.2:g.6471078C>T GRCh38
NC_000012.11:g.6580244C>T , CM000674.1:g.6580244C>T GRCh37
NC_000012.10:g.6450505C>T NCBI36
NG_042188.1:g.4822G>A
NG_042188.2:g.4822G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2345C>T
XR_001748778.2:n.2342C>T
Search 100 bp 5'
Search 100 bp 3'